Varaico: Literature-Extracted Genetic Variants

KIT

4,821 papers

RefSeq Summary

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical...

Pfam Domains

igaa 219–304UCSCImmunoglobulin domain

Ig_PDGFR_d4aa 421–542UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 590–924UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

KIT proto-oncogene, receptor tyrosine kinase

HGNC Previous Symbol

PBT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000222.3

p.T232M

c.695C>T

Surrounding Variants

1 paper

NM_000222.3

p.T232_I235delFs

c.696_705del10

3 papers

NM_000222.3

p.T232A

c.694A>G

1 paper

NM_000222.3

p.T232S

c.694A>T

1 paper

NM_000222.3

p.T232T

c.696G>A

1 paper

NM_000222.3

p.V231V

c.693G>T

3 papers

NM_000222.3

p.C233S

c.697T>A

1 paper

NM_000222.3

p.C233Y

c.698G>A

2 papers

NM_000222.3

p.C233S

c.698G>C

1 paper

NM_000222.3

p.V231A

c.692T>C

1 paper

NM_000222.3

p.V231G

c.692T>G

1 paper

NM_000222.3

p.C233W

c.699C>G

2 papers

NM_000222.3

p.V231M

c.691G>A